As of 1 January 2025, the Journal of Medical Genetics (JMG) has become the official journal of the British Society for Genetic Medicine (BSGM), an exciting new partnership will strengthen the exchange ...
Background Diagnosis of a child with a genetic condition leads to parents asking whether there is a risk the condition could occur again with future pregnancies. If the cause is identified as an ...
Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a ...
Department of Pathology, State University of New York-Downstate Medical Center, Brooklyn, NY, USA ...
BACKGROUND Anticonvulsants taken in pregnancy are associated with an increased risk of malformations and developmental delay in the children. To evaluate the pattern of abnormalities associated with ...
Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...
Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK Professor P F Chinnery, Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne, ...
Correspondence to Dr Marta Futema; mfutema{at}sgul.ac.uk Conclusions The prevalence and gene distribution of FH-causing variants in 100KGP are consistent with UK estimates. Differences in variant ...
Department of Neurology, School of Neurosciences and Psychiatry, The Medical School, University of Newcastle Upon Tyne, UK Correspondence to: Dr P F Chinnery, Department of Neurology, School of ...
Background Hutchinson-Gilford progeria syndrome (HGPS) is a fatal sporadic autosomal dominant premature ageing disease caused by single base mutations that optimise a cryptic splice site within exon ...
Background Recurrent preimplantation embryo developmental arrest (RPEA) is the most common phenotype in assisted reproductive technology treatment failure associated with identified genetic ...
Background The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT), reclassified in the 2017 nosology into 13 subtypes. The genetic basis for hypermobile Ehlers-Danlos ...
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